Detecting DNA Mutations: Hands-on Variant Analysis using Galaxy (Beginner-Friendly)
Master hands-on variant analysis to accurately identify genetic abnormalities using Galaxy pipelines. Learn to identify pathogenic genomic shifts and structural variations through advanced bioinformatics analysis.
Course Description
This intensive online workshop focuses on detecting DNA mutations through standard modern bioinformatics pipelines. Participants will dive directly into real-world dataset evaluation to master hands-on variant analysis using the open-source Galaxy platform. The curriculum covers the entire genomic pipeline from processing raw sequencing reads to isolating complex genetic polymorphisms and variants. By leveraging algorithmic workflows and digital data-mapping logic, you will learn how to automate sequence alignment and filtering steps. This training bridges the gap between massive molecular data streams and actionable biological insights without needing a programming background. You will discover how to identify Single Nucleotide Polymorphisms (SNPs), insertions, deletions, and disease-causing genomic anomalies efficiently. By the end of this session, you will possess a clear understand of how computational tools index structural biological alterations. Elevate your bioinformatics expertise, understand machine-readable data structures, and accelerate your life science research insights.
What You'll Learn
The core principles of next-generation sequencing data structures and mutation profiling logic.
How to navigate, build, and deploy automated variant calling pipelines inside the Galaxy interface.
Practical methods for conducting reference-based sequence alignments and quality assessment filtering.
Tools to locate, annotate, and interpret Single Nucleotide Variants (SNVs) and Small Indels.
Strategies to handle multi-omic public databases for comparing wildtype and mutant sequences.
Curriculum
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Module 1: Core architecture of DNA mutations, genetic variants, and the fundamentals of Next-Generation Sequencing (NGS).
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Module 2: Navigating the Galaxy platform, importing raw files, and understanding cloud-based histories.
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Module 3: Running automated biological Quality Control (QC) assays and trimming raw FASTQ sequencing files.
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Module 4: Mapping sequences to reference genomes and executing AI-driven variant calling models.
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Module 5: Visualizing mutations in IGV, annotating clinical variants, and exporting reproducible pipelines.
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